Endocrine Abstracts

Background: GH response to oral glucose tolerance test (OGTT) is currently used for the definition of disease remission in acromegaly. This test has been poorly investigated in other pituitary diseases.Aim: To evaluate the impact of a pituitary disease other than acromegaly on GH response to OGTT.Patients and methods: Eighteen patients (13 F & 5 M, age: 50.7±13.1 years) with different pituitary diseases (i.e. non-functioni...

Background: The d3-growth hormone receptor (GHR) polymorphism is a common variant characterized by genomic deletion of exon 3 (d3) of the GHR gene. It could be linked to a better growth response to GH, but the findings are controversial. Due to the lack of IGF-I feedback on the tumoral GH secretion, acromegaly seems to be a good model to study functional characteristics of this polymorphism. Aim of the study was to investigate possible influences of d3-GHR on GH and IGF-I rela...

In human adipocytes the cAMP-dependent pathway mediates signals originating from the activation of beta-adrenergic receptors, thus playing a key role in the regulation of important metabolic processes such as lipolysis and thermogenesis. CyclicAMP effects are mainly mediated by cAMP-dependent protein kinase (PKA), a tetrameric enzyme composed by two catalytic subunits associated with two regulatory (R) subunits. There are four different R subunit genes and proteins (R1A, R1B, ...

Celiac disease is a chronic inflammatory autoimmune disorder often associated with other endocrine autoimmune diseases, such as type I diabetes mellitus, Addison’s disease and Hashimoto’s thyroiditis. In these patients, LH, FSH and GH secretion has been poorly investigated. Aim of this study is to evaluate anterior pituitary function, and in particular hypotalamic-pituitary-gonadal (HPG) axis and GH-IGF-I axis, in adult patients with treated celiac disease. For this ...

Objective: To evaluate the association between testosterone (T) values and clinical outcome of COVID-19.Methods: This is a retrospective single-center study performed on 221 male patients (median age 70.5 years, range 26-93) with COVID-19 and hospitalized in our Institution between November 1st 2020 and January 31st 2021. Patients’ height, weight, BMI, medical history and comorbidities were recorded; at admission, patients underwent sampling for com...

Background: Patients affected by gastroenteropancreatic-neuroendocrine tumors (GEP-NETs) present an increased risk of bone fragility due to several factors, such as bone metastases, vitamin D deficiency, hormonal secretion, medical and surgical treatments. Although patients with well-differentiated GEP-NETs generally present a long life-expectancy, occurrence of fragility fractures could significantly impair quality of life.Objectives: The study aims to ...

Osteoporosis causes bone fragility usually affecting the elderly. Genetic susceptibility plays a crucial role in determining the risk of fragility fractures and is involved in early-onset osteoporosis. When fragility fractures or low bone mineral density (BMD) occur in young adults without evident secondary osteoporosis, an underlying monogenetic bone disease should be assessed. The list of genes related to low BMD and their mutations is increasing. Nevertheless, little is kno...

Alternative splicing is a crucial mechanism of gene regulation and this process can be dysregulated in cancer. In pituitary tumors (PitNETs), alteration in the serine/arginine-rich splicing factors (SRSFs) has been reported. Newly synthetized SRSFs are phosphorylated by serine-arginine protein kinase 1 (SRPK1) to facilitate their nuclear import. In response to extracellular stimuli SRPK1 may translocate to the nucleus as well to hyperphosphorylate SRSFs and favor their interac...

Introduction: Cyclic Cushing’s syndrome (cCS) is a rare condition characterized by periods of excessive cortisol secretion (peaks), alternating with phases of eucortisolism (through). In most cases, cCS is caused by an ACTH-secreting pituitary tumor, while only few cases of cyclic ectopic ACTH secretion (cEAS) have been described.Case presentation: In February 2023, a 58-year-old woman was referred to our Endocrine Unit due to a 10-year history of r...

PAM encodes a multifunctional protein recognized as an important regulator of hormone amidation and secretion. Since PAM germline mutations have been recently identified in patients with PitNETs, it has been proposed as a candidate gene associated with pituitary hypersecretion.Aim: To characterize PAM expression in a large cohort of PitNETs through immunohistochemistry and transcriptome analysis (RNA sequencing).M...